Canonical Allele Identifier: CA390700119
Gene: SPTLC2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.77518151T>C , CM000676.2:g.77518151T>C GRCh38
NC_000014.8:g.77984494T>C , CM000676.1:g.77984494T>C GRCh37
NC_000014.7:g.77054247T>C NCBI36
NG_028282.1:g.103617A>G , LRG_371:g.103617A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000686627.1:n.488A>G
ENST00000687688.1:n.1219A>G
ENST00000692906.1:n.1188A>G
ENST00000216484.7:c.1456A>G MANE Select ENSP00000216484.2:p.Met486Val
ENST00000216484.6:c.1456A>G ENSP00000216484.2:p.Met486Val
ENST00000556607.1:c.284A>G ENSP00000451029.1:n.284A>G
NM_004863.3:c.1456A>G , LRG_371t1:c.1456A>G NP_004854.1:p.Met486Val
NM_004863.4:c.1456A>G MANE Select NP_004854.1:p.Met486Val